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UniProtKB - Q96DP5 (FMT_HUMAN)

Protein

Methionyl-tRNA formyltransferase, mitochondrial

Gene

MTFMT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Formylates methionyl-tRNA in mitochondria. A single tRNA(Met) gene gives rise to both an initiator and an elongator species via an unknown mechanism (By similarity).By similarity

Catalytic activityi

10-formyltetrahydrofolate + L-methionyl-tRNA(fMet) = tetrahydrofolate + N-formylmethionyl-tRNA(fMet).

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTransferase
Biological processProtein biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation

Names & Taxonomyi

Protein namesi
Recommended name:
Methionyl-tRNA formyltransferase, mitochondrial (EC:2.1.2.9)
Short name:
MtFMT
Gene namesi
Name:MTFMT
Synonyms:FMT, FMT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000103707.9
HGNCiHGNC:29666 MTFMT
MIMi611766 gene
neXtProtiNX_Q96DP5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 15 (COXPD15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.
See also OMIM:614947
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069303125S → L in COXPD15. 1 PublicationCorresponds to variant dbSNP:rs397514614EnsemblClinVar.1
Natural variantiVAR_069304209S → L in COXPD15; also found in Leigh syndrome. 2 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar.1
Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi123263
MalaCardsiMTFMT
MIMi256000 phenotype
614947 phenotype
OpenTargetsiENSG00000103707
Orphaneti319524 Combined oxidative phosphorylation defect type 15
2609 Isolated NADH-CoQ reductase deficiency
PharmGKBiPA142671304

Chemistry databases

DrugBankiDB00116 Tetrahydrofolic acid

Polymorphism and mutation databases

BioMutaiMTFMT
DMDMi27923776

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_0000010093? – 389Methionyl-tRNA formyltransferase, mitochondrial
Transit peptidei1 – ?MitochondrionSequence analysis

Proteomic databases

EPDiQ96DP5
MaxQBiQ96DP5
PaxDbiQ96DP5
PeptideAtlasiQ96DP5
PRIDEiQ96DP5
ProteomicsDBi76304

PTM databases

iPTMnetiQ96DP5
PhosphoSitePlusiQ96DP5

Expressioni

Gene expression databases

BgeeiENSG00000103707 Expressed in 187 organ(s), highest expression level in left ventricle myocardium
CleanExiHS_MTFMT
ExpressionAtlasiQ96DP5 baseline and differential
GenevisibleiQ96DP5 HS

Organism-specific databases

HPAiHPA040710

Interactioni

Protein-protein interaction databases

BioGridi125820, 10 interactors
IntActiQ96DP5, 3 interactors
STRINGi9606.ENSP00000220058

Structurei

3D structure databases

ProteinModelPortaliQ96DP5
SMRiQ96DP5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

Composed of an N- and a C-terminal domain. The N-terminal domain carries the tetrahydrofolate (THF)-binding site and the C-terminal domain is presumably involved in positioning the Met-tRNA substrate for the formylation reaction.

Sequence similaritiesi

Belongs to the Fmt family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3082 Eukaryota
COG0223 LUCA
GeneTreeiENSGT00390000017828
HOGENOMiHOG000261177
HOVERGENiHBG031552
InParanoidiQ96DP5
KOiK00604
OMAiNFYKYKR
OrthoDBiEOG091G0QUP
PhylomeDBiQ96DP5
TreeFamiTF323405

Family and domain databases

Gene3Di3.10.25.10, 1 hit
InterProiView protein in InterPro
IPR005794 Fmt
IPR005793 Formyl_trans_C
IPR037022 Formyl_trans_C_sf
IPR002376 Formyl_transf_N
IPR036477 Formyl_transf_N_sf
IPR011034 Formyl_transferase-like_C_sf
PfamiView protein in Pfam
PF02911 Formyl_trans_C, 1 hit
PF00551 Formyl_trans_N, 1 hit
SUPFAMiSSF50486 SSF50486, 1 hit
SSF53328 SSF53328, 1 hit
TIGRFAMsiTIGR00460 fmt, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96DP5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRVLVRRCWG PPLAHGARRG RPSPQWRALA RLGWEDCRDS RVREKPPWRV 
        60         70         80         90        100
LFFGTDQFAR EALRALHAAR ENKEEELIDK LEVVTMPSPS PKGLPVKQYA 
       110        120        130        140        150
VQSQLPVYEW PDVGSGEYDV GVVASFGRLL NEALILKFPY GILNVHPSCL 
       160        170        180        190        200
PRWRGPAPVI HTVLHGDTVT GVTIMQIRPK RFDVGPILKQ ETVPVPPKST 
       210        220        230        240        250
AKELEAVLSR LGANMLISVL KNLPESLSNG RQQPMEGATY APKISAGTSC 
       260        270        280        290        300
IKWEEQTSEQ IFRLYRAIGN IIPLQTLWMA NTIKLLDLVE VNSSVLADPK 
       310        320        330        340        350
LTGQALIPGS VIYHKQSQIL LVYCKDGWIG VRSVMLKKSL TATDFYNGYL 
       360        370        380 
HPWYQKNSQA QPSQCRFQTL RLPTKKKQKK TVAMQQCIE
Length:389
Mass (Da):43,832
Last modified:January 27, 2003 - v2
Checksum:iEBBE92142AB954E0
GO
Isoform 2 (identifier: Q96DP5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     141-144: GILN → SFQF
     145-389: Missing.

Note: No experimental confirmation available.
Show »
Length:144
Mass (Da):16,548
Checksum:i7BB7825B64E39247
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BTN9H3BTN9_HUMAN
Methionyl-tRNA formyltransferase, m...
MTFMT
134Annotation score:

Sequence cautioni

The sequence AAH16630 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH33687 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB70984 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0592895V → A. Corresponds to variant dbSNP:rs2946655EnsemblClinVar.1
Natural variantiVAR_069303125S → L in COXPD15. 1 PublicationCorresponds to variant dbSNP:rs397514614EnsemblClinVar.1
Natural variantiVAR_069304209S → L in COXPD15; also found in Leigh syndrome. 2 PublicationsCorresponds to variant dbSNP:rs201431517EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057059141 – 144GILN → SFQF in isoform 2. 1 Publication4
Alternative sequenceiVSP_057060145 – 389Missing in isoform 2. 1 PublicationAdd BLAST245

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055688 mRNA Translation: BAB70984.1 Different initiation.
AK301390 mRNA Translation: BAH13470.1
AC013553 Genomic DNA No translation available.
AC103691 Genomic DNA No translation available.
BC016630 mRNA Translation: AAH16630.2 Different initiation.
BC033687 mRNA Translation: AAH33687.1 Different initiation.
CCDSiCCDS45280.1 [Q96DP5-1]
RefSeqiNP_640335.2, NM_139242.3 [Q96DP5-1]
UniGeneiHs.531615

Genome annotation databases

EnsembliENST00000220058; ENSP00000220058; ENSG00000103707 [Q96DP5-1]
ENST00000543678; ENSP00000443754; ENSG00000103707 [Q96DP5-2]
ENST00000558460; ENSP00000452646; ENSG00000103707 [Q96DP5-1]
GeneIDi123263
KEGGihsa:123263
UCSCiuc002aof.5 human [Q96DP5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055688 mRNA Translation: BAB70984.1 Different initiation.
AK301390 mRNA Translation: BAH13470.1
AC013553 Genomic DNA No translation available.
AC103691 Genomic DNA No translation available.
BC016630 mRNA Translation: AAH16630.2 Different initiation.
BC033687 mRNA Translation: AAH33687.1 Different initiation.
CCDSiCCDS45280.1 [Q96DP5-1]
RefSeqiNP_640335.2, NM_139242.3 [Q96DP5-1]
UniGeneiHs.531615

3D structure databases

ProteinModelPortaliQ96DP5
SMRiQ96DP5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125820, 10 interactors
IntActiQ96DP5, 3 interactors
STRINGi9606.ENSP00000220058

Chemistry databases

DrugBankiDB00116 Tetrahydrofolic acid

PTM databases

iPTMnetiQ96DP5
PhosphoSitePlusiQ96DP5

Polymorphism and mutation databases

BioMutaiMTFMT
DMDMi27923776

Proteomic databases

EPDiQ96DP5
MaxQBiQ96DP5
PaxDbiQ96DP5
PeptideAtlasiQ96DP5
PRIDEiQ96DP5
ProteomicsDBi76304

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220058; ENSP00000220058; ENSG00000103707 [Q96DP5-1]
ENST00000543678; ENSP00000443754; ENSG00000103707 [Q96DP5-2]
ENST00000558460; ENSP00000452646; ENSG00000103707 [Q96DP5-1]
GeneIDi123263
KEGGihsa:123263
UCSCiuc002aof.5 human [Q96DP5-1]

Organism-specific databases

CTDi123263
DisGeNETi123263
EuPathDBiHostDB:ENSG00000103707.9
GeneCardsiMTFMT
HGNCiHGNC:29666 MTFMT
HPAiHPA040710
MalaCardsiMTFMT
MIMi256000 phenotype
611766 gene
614947 phenotype
neXtProtiNX_Q96DP5
OpenTargetsiENSG00000103707
Orphaneti319524 Combined oxidative phosphorylation defect type 15
2609 Isolated NADH-CoQ reductase deficiency
PharmGKBiPA142671304
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3082 Eukaryota
COG0223 LUCA
GeneTreeiENSGT00390000017828
HOGENOMiHOG000261177
HOVERGENiHBG031552
InParanoidiQ96DP5
KOiK00604
OMAiNFYKYKR
OrthoDBiEOG091G0QUP
PhylomeDBiQ96DP5
TreeFamiTF323405

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation

Miscellaneous databases

GeneWikiiMTFMT
GenomeRNAii123263
PROiPR:Q96DP5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000103707 Expressed in 187 organ(s), highest expression level in left ventricle myocardium
CleanExiHS_MTFMT
ExpressionAtlasiQ96DP5 baseline and differential
GenevisibleiQ96DP5 HS

Family and domain databases

Gene3Di3.10.25.10, 1 hit
InterProiView protein in InterPro
IPR005794 Fmt
IPR005793 Formyl_trans_C
IPR037022 Formyl_trans_C_sf
IPR002376 Formyl_transf_N
IPR036477 Formyl_transf_N_sf
IPR011034 Formyl_transferase-like_C_sf
PfamiView protein in Pfam
PF02911 Formyl_trans_C, 1 hit
PF00551 Formyl_trans_N, 1 hit
SUPFAMiSSF50486 SSF50486, 1 hit
SSF53328 SSF53328, 1 hit
TIGRFAMsiTIGR00460 fmt, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFMT_HUMAN
AccessioniPrimary (citable) accession number: Q96DP5
Secondary accession number(s): B7Z734
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 27, 2003
Last sequence update: January 27, 2003
Last modified: October 10, 2018
This is version 151 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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